Integrative genetic analysis of autistic brains

Dr. Arking and his colleagues are taking a new approach to the search for autism risk genes, combining measurements of altered gene expression — obtained directly from brain tissue using high-throughput, next-generation sequencing — with other genetic data. The scientists recently found that some cases of autism can be linked to common sequence changes in the gene CNTNAP2, which codes for a protein that regulates signaling between neurons, and SEMA5A, which encodes a protein involved in neuron development. In neither gene do the sequence variations modify the proteins directly, suggesting that the risk for autism associated with these genes results from changes in the amount, timing or location of protein expression. To find more autism-associated genes, Arking and colleagues will screen autistic brains and controls for differences in genetic sequences, DNA methylation and gene expression. Arking's team plans to make all data and software publicly available, allowing other researchers to benefit from this study.